A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219098



Internal ID22364228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49361741..49400490hg38UCSC Ensembl
Outerchr13:49935877..49974626hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3838750
hg1938750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257099, nssv14257098, nssv14257095, nssv14257097, nssv14257100, nssv14257096
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesCAB39L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219098
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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